Mutagenetix > Incidental Mutation

Incidental Mutation 'R7656:Or5b123'

591233

Institutional Source

Beutler Lab

Gene Symbol

Or5b123

Ensembl Gene

ENSMUSG00000094846

Gene Name

olfactory receptor family 5 subfamily B member 123

Synonyms

Olfr1487, MOR202-18, GA_x6K02T2RE5P-3951719-3952666

MMRRC Submission

045732-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.082) question?

Stock #

R7656 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

13596528-13597475 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 13597197 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 181 (I181F)

Ref Sequence

ENSEMBL: ENSMUSP00000146726 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000076856] [ENSMUST00000208347] [ENSMUST00000209005] [ENSMUST00000216688] [ENSMUST00000217061]

AlphaFold

Q8VFQ6

Predicted Effect

probably damaging
Transcript: ENSMUST00000076856
AA Change: I224F

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000076128
Gene: ENSMUSG00000094846
AA Change: I224F

Domain	Start	End	E-Value	Type
Pfam:7tm_4	30	306	4.8e-55	PFAM
Pfam:7TM_GPCR_Srsx	34	304	1e-6	PFAM
Pfam:7tm_1	40	289	9.5e-19	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000208347

Predicted Effect

probably damaging
Transcript: ENSMUST00000209005
AA Change: I181F

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

Predicted Effect

probably damaging
Transcript: ENSMUST00000216688
AA Change: I181F

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

Predicted Effect

probably damaging
Transcript: ENSMUST00000217061
AA Change: I224F

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Meta Mutation Damage Score

0.6329

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

100% (66/66)

MGI Phenotype

FUNCTION: Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abitram	A	G	4: 56,804,218 (GRCm39)	I78V	probably benign	Het
Acot2	A	G	12: 84,039,691 (GRCm39)	Y400C	probably benign	Het
Agbl1	A	G	7: 76,059,080 (GRCm39)	M237V		Het
Atrnl1	C	A	19: 57,599,811 (GRCm39)	S9*	probably null	Het
BC031181	A	T	18: 75,142,406 (GRCm39)	K71*	probably null	Het
Bmal2	A	G	6: 146,707,940 (GRCm39)	T21A	probably benign	Het
Brpf1	A	T	6: 113,291,835 (GRCm39)	M294L	probably benign	Het
Camk2g	T	G	14: 20,789,410 (GRCm39)	D382A	possibly damaging	Het
Ccdc33	T	A	9: 58,025,748 (GRCm39)	R94W	probably damaging	Het
Cd244a	T	A	1: 171,404,823 (GRCm39)	L225Q	probably damaging	Het
Chsy1	G	T	7: 65,820,778 (GRCm39)	V338F	probably damaging	Het
Col14a1	A	G	15: 55,225,846 (GRCm39)	I170V	unknown	Het
Col6a2	G	T	10: 76,443,590 (GRCm39)	Q492K	probably benign	Het
Dnah12	G	T	14: 26,581,273 (GRCm39)	V3168L	probably benign	Het
Dnah7a	T	C	1: 53,535,164 (GRCm39)	S2699G	possibly damaging	Het
Efhc1	A	G	1: 21,031,281 (GRCm39)		probably null	Het
Fsip2	A	G	2: 82,807,886 (GRCm39)	K1402E	possibly damaging	Het
Ghdc	C	T	11: 100,660,493 (GRCm39)	A127T	probably benign	Het
Glp1r	T	C	17: 31,149,572 (GRCm39)		probably null	Het
Gm19410	A	T	8: 36,276,253 (GRCm39)	M1637L	probably benign	Het
Grm5	T	G	7: 87,779,459 (GRCm39)	D998E	probably benign	Het
Krtcap3	A	G	5: 31,409,904 (GRCm39)	T157A	probably damaging	Het
Ltf	A	T	9: 110,853,462 (GRCm39)	K18*	probably null	Het
Luc7l2	A	G	6: 38,580,399 (GRCm39)	R333G	unknown	Het
Mdc1	T	G	17: 36,161,773 (GRCm39)	S895R	probably benign	Het
Mef2a	G	A	7: 66,945,142 (GRCm39)	T80M	probably damaging	Het
Mitd1	T	A	1: 37,924,356 (GRCm39)	I65F	probably benign	Het
Mms19	A	G	19: 41,933,011 (GRCm39)	L1026P	probably damaging	Het
Mtbp	G	T	15: 55,472,922 (GRCm39)	V629L	unknown	Het
Ncapd3	T	A	9: 26,966,801 (GRCm39)	I545N	possibly damaging	Het
Nin	G	A	12: 70,089,542 (GRCm39)	T1291M		Het
Or10z1	T	A	1: 174,077,784 (GRCm39)	K236N	probably damaging	Het
Orc3	G	T	4: 34,587,032 (GRCm39)	C352*	probably null	Het
Oxct2b	G	A	4: 123,011,550 (GRCm39)	G490D	probably benign	Het
Pcdhb16	A	T	18: 37,612,458 (GRCm39)	T473S	probably benign	Het
Phkg2	G	A	7: 127,182,074 (GRCm39)	G365D	probably damaging	Het
Pira1	T	C	7: 3,742,281 (GRCm39)	E82G	probably damaging	Het
Plekhd1	A	G	12: 80,768,934 (GRCm39)		probably null	Het
Ppp2r3d	A	T	9: 101,088,911 (GRCm39)	F471I	probably benign	Het
Prl3d1	T	C	13: 27,284,018 (GRCm39)	C196R	possibly damaging	Het
Prmt1	A	T	7: 44,633,552 (GRCm39)	F14L	probably benign	Het
Prox1	A	G	1: 189,894,418 (GRCm39)	L9P	probably damaging	Het
Ptpn13	T	A	5: 103,688,849 (GRCm39)	F881I	probably benign	Het
Rab3ip	A	G	10: 116,750,044 (GRCm39)	I363T	probably benign	Het
Rapgef3	T	C	15: 97,659,090 (GRCm39)	E134G	probably damaging	Het
Rapgef6	C	T	11: 54,585,279 (GRCm39)	P1559L	probably benign	Het
Rnf180	T	C	13: 105,304,096 (GRCm39)	K507E	probably damaging	Het
Rpl3l	T	C	17: 24,949,960 (GRCm39)	I53T	probably benign	Het
Rtl1	T	C	12: 109,557,442 (GRCm39)	I1466V	unknown	Het
Saxo2	A	G	7: 82,284,559 (GRCm39)	Y100H	probably damaging	Het
Selenoh	G	T	2: 84,500,724 (GRCm39)	R39S	probably damaging	Het
Sgsm2	A	G	11: 74,756,323 (GRCm39)	V342A	probably damaging	Het
Slc26a9	T	A	1: 131,690,982 (GRCm39)	F587I	possibly damaging	Het
Smoc1	A	T	12: 81,152,682 (GRCm39)	Q91L	possibly damaging	Het
Spag9	A	C	11: 93,887,389 (GRCm39)	H98P	possibly damaging	Het
Spata31e3	T	G	13: 50,401,122 (GRCm39)	K401N	probably benign	Het
T2	T	A	17: 8,637,047 (GRCm39)	C337*	probably null	Het
Tbc1d19	A	G	5: 54,054,377 (GRCm39)	Y455C	probably damaging	Het
Thbd	A	G	2: 148,249,340 (GRCm39)	L176P	probably damaging	Het
Tmem116	A	G	5: 121,590,252 (GRCm39)		probably null	Het
Tmem25	C	T	9: 44,709,640 (GRCm39)	V54I	possibly damaging	Het
Trpm4	C	T	7: 44,971,233 (GRCm39)	V378I	probably benign	Het
Trrap	G	T	5: 144,779,422 (GRCm39)	W3129C	probably damaging	Het
Ttn	A	T	2: 76,558,660 (GRCm39)	D29740E	probably damaging	Het
Vcan	C	T	13: 89,833,233 (GRCm39)	C3073Y	probably damaging	Het
Xrra1	T	A	7: 99,560,189 (GRCm39)	D388E	probably benign	Het

Other mutations in Or5b123

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01128:Or5b123	APN	19	13,597,110 (GRCm39)	missense	probably damaging	1.00
R0281:Or5b123	UTSW	19	13,596,849 (GRCm39)	missense	probably benign	0.00
R0847:Or5b123	UTSW	19	13,596,915 (GRCm39)	missense	probably benign	0.10
R1852:Or5b123	UTSW	19	13,596,967 (GRCm39)	missense	probably damaging	0.99
R2026:Or5b123	UTSW	19	13,596,945 (GRCm39)	missense	probably damaging	1.00
R2877:Or5b123	UTSW	19	13,596,996 (GRCm39)	missense	probably damaging	0.97
R3965:Or5b123	UTSW	19	13,596,565 (GRCm39)	missense	probably damaging	1.00
R4935:Or5b123	UTSW	19	13,597,066 (GRCm39)	missense	probably benign	0.11
R5148:Or5b123	UTSW	19	13,596,874 (GRCm39)	nonsense	probably null
R5210:Or5b123	UTSW	19	13,596,763 (GRCm39)	missense	probably damaging	1.00
R5427:Or5b123	UTSW	19	13,596,714 (GRCm39)	missense	probably benign	0.31
R5940:Or5b123	UTSW	19	13,596,517 (GRCm39)	splice site	probably null
R6110:Or5b123	UTSW	19	13,597,249 (GRCm39)	missense	probably benign	0.03
R6125:Or5b123	UTSW	19	13,597,249 (GRCm39)	missense	probably benign	0.03
R6294:Or5b123	UTSW	19	13,596,730 (GRCm39)	missense	probably benign	0.08
R7051:Or5b123	UTSW	19	13,596,769 (GRCm39)	missense	possibly damaging	0.94
R7052:Or5b123	UTSW	19	13,596,990 (GRCm39)	missense	probably benign	0.13
R7324:Or5b123	UTSW	19	13,596,942 (GRCm39)	missense	probably benign
R7655:Or5b123	UTSW	19	13,597,197 (GRCm39)	missense	probably damaging	0.99
R7807:Or5b123	UTSW	19	13,597,285 (GRCm39)	missense	probably damaging	0.99
R7876:Or5b123	UTSW	19	13,596,628 (GRCm39)	missense	probably damaging	1.00
R8118:Or5b123	UTSW	19	13,597,109 (GRCm39)	missense	probably damaging	1.00
R8370:Or5b123	UTSW	19	13,596,661 (GRCm39)	missense	probably damaging	1.00
R9138:Or5b123	UTSW	19	13,596,658 (GRCm39)	missense	probably damaging	0.97
R9644:Or5b123	UTSW	19	13,597,344 (GRCm39)	missense	probably benign	0.41
R9664:Or5b123	UTSW	19	13,597,365 (GRCm39)	missense	probably benign	0.00
Z1176:Or5b123	UTSW	19	13,597,026 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- ATGTCAGTGGACTCTTACAATCTTC -3'
(R):5'- GGGTTCAGCATGGGAATGAC -3'

Sequencing Primer
(F):5'- AGTGGACTCTTACAATCTTCCATTC -3'
(R):5'- CCATGGTGTAGAAAACAGATGCCATC -3'

Posted On

2019-11-12